There are a number of diseases in the world with a very small percentage of affected people. These are the so-called rare diseases. One of these very rare diseases is Creutzfeldt-Jakob Disease (CJD) , which will be discussed throughout this article.

In Creutzfeldt-Jakob Disease (CJD), an abnormality in a protein causes progressive brain damage that results in an accelerated decline in mental function and movement, eventually leading to coma and death.

What is Creutzfeldt-Jakob disease?

Creutzfeldt-Jakob Disease (CJD) is established as a rare brain disorder that is also degenerative and invariably fatal. It is considered a very rare disease, affecting approximately one in a million people.

CJD usually appears in advanced stages of life and is characterized by a very rapid evolution . Its first symptoms usually appear at the age of 60, and 90% of patients die within a year of being diagnosed.

These early symptoms are:

  • Memory failures
  • Behavior changes
  • Lack of coordination
  • Visual disturbances

As the disease progresses, the mental deterioration becomes very significant, and can lead to blindness, involuntary movements, weakness in the extremities, and coma.

Creutzfeldt-Jakob Disease (CJD) is a family of diseases called Transmissible Spongiform Encephalopathies (TSEs). In these diseases infected brains have holes or pits that are only visible under a microscope ; making them look similar to sponges.

Causes

The main scientific theories hold that this disease is not caused by some virus or bacteria, but by a type of protein called a prion.

This protein can present both in a normal and harmless way and in an infectious way, which causes the disease and causes the rest of common proteins to fold in an abnormal way, affecting their ability to function.

When these abnormal proteins appear and bind together they form fibers called plaques, which can begin to accumulate several years before the first symptoms of the disease begin to appear.

Types of Creutzfeldt-Jakob Disease

There are three categories of Creutzfeldt-Jakob Disease (CJD):

1. Sporadic CJD

It is the most common type and appears when the person does not yet have known risk factors for the disease. It occurs in 85% of cases.

2. Hereditary

It occurs in 5 to 10 percent of cases. These are people with a family history of the disease or positive tests for the genetic mutation associated with it.

3. Acquired

There is no evidence that CJD is contagious through casual contact with a patient, but there is evidence that it is transmitted by exposure to brain tissue or the nervous system. It occurs in less than 1% of cases.

Symptoms and development of this disease

Initially Creutzfeldt-Jakob Disease (CJD) manifests itself in the form of dementia, with personality changes, impaired memory, thinking and judgment ; and in the form of muscle coordination problems.

As the disease progresses, the mental deterioration becomes more acute. The patient begins to suffer involuntary muscle contractions or myoclonus, loses bladder control and may even go blind.

Eventually, the person loses the ability to move and speak; until finally a coma occurs. In this last stage, other infections arise that can lead to death.

Although the symptoms of CJD may appear similar to those of other neurodegenerative disorders such as Alzheimer’s or Huntington’s disease, CJD causes a much more rapid decline in a person’s abilities and has unique changes in brain tissue that can be seen after an autopsy.

Diagnosis

At the moment there is no conclusive diagnostic test for CJD, so detection becomes really complicated.

The first step in making an effective diagnosis is to rule out any other treatable form of dementia , for which a complete neurological examination is necessary. Other tests used to diagnose CJD include spinal tap and electroencephalogram (EEG).

A computerized tomography (CT) scan or magnetic resonance imaging (MRI) of the brain may be helpful to rule out symptoms due to other problems such as brain tumors, and to identify common patterns in the brain degeneration of CJD.

Unfortunately, the only way to confirm a CJD is by a brain biopsy or autopsy. Because of its dangerousness, this first procedure is not performed unless it is necessary to rule out any other treatable pathology. In addition, the risk of infection from these procedures makes them even more complicated to perform .

Treatment and prognosis

Just as there is no diagnostic test for this disease, there is no treatment that can cure or control it.

Currently, patients with CJD receive palliative treatments with the main goal of relieving their symptoms and making the patient enjoy the highest possible quality of life. For these cases, the use of opioid drugs, clonazepam, and sodium valproate can help reduce pain and palliate myoclonus. Within six months or less after the onset of symptoms, patients are unable to care for themselves.

Usually, the disorder becomes fatal within a short period of time, approximately eight months ; although a small proportion of people survive up to one or two years.

The most common cause of death in CJD is infection, and heart or respiratory failure.

How it is transmitted and ways to avoid it

The risk of transmission of CJD is extremely low; doctors who operate on the brain or nerve tissue are those who are most exposed to it.

This disease cannot be transmitted through the air, or through any contact with a person who has it. However, direct or indirect contact with brain tissue and spinal cord fluid does pose a risk .

To avoid the already low risk of infection, people who are suspected or already diagnosed with CJD should not donate blood, tissues, or organs.

As for the people who take care of these patients, health professionals and even funeral professionals must take a number of precautions when doing their job. Some of these are:

  • Wash hands and exposed skin
  • Cover cuts or abrasions with waterproof bandages
  • Wear surgical gloves when handling patient tissue and fluids
  • Use face protection and bedding or other disposable clothing
  • Thoroughly clean instruments used in an operation or that have been in contact with the patient